Details of Disease

General Information of Disease (ID: DISCWVFW)

Disease Name Familial hemophagocytic lymphohistiocytosis 5
Synonyms
hemophagocytic lymphohistiocytosis, familial, 5; genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2; STXBP2 genetic hemophagocytic lymphohistiocytosis; hemophagocytic lymphohistiocytosis, familial, type 5; familial hemophagocytic lymphohistiocytosis type 5; FHL5; hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease; HPLH5; HLH5
Definition Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.
Disease Hierarchy
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISCWVFW: Familial hemophagocytic lymphohistiocytosis 5
Disease Identifiers
MONDO ID
MONDO_0013135
MESH ID
C567752
UMLS CUI
C2751293
OMIM ID
613101
MedGen ID
416514

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STXBP2 OTX8GUC4 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.